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Pyknodysostosis: A Case Report Article · June 2008
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2 authors: Hamidreza Pakshir
Hooman zarif najafi
Shiraz University of Medical Sciences
Shiraz University of Medical Sciences
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Case Report
Pyknodysostosis: A Case Report H. Pakshir 1,2~, H. Zarif Najafi 3 1
Professor, Department of Orthodontics, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran Professor, Orthodontic Research Center, Shiraz University of Medical Sciences, Shiraz, Iran 3 Assistant Professor, Department of Orthodontics, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran 2
Abstract:
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Corresponding author: H. Pakshir, Department of Orthodontics, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran.
[email protected] Received:25 July 2007 Accepted:28 November 2007
Pyknodysostosis is a rare bone disease that has autosomal dominant trait. It is characterized by short stature, diffuse osteosclerosis, acro-osteolysis, finger, and nail abnormalities. Other features include open fontanelles and sutures, relative proptosis and obtuse mandibular gonial angle with relative mandibular prognathism. Intraoral features such as dental abnormalities also have been reported. In this report, a case of pyknodysostosis in a 9-year-old boy is presented. Most of the observed features were comparable to the other case reports but some findings such as repeated chest infection, sleep apnea, kyphosis, scoliosis, root shortness, pulp narrowing, supernumerary and hypodontia could not be observed in this case. Instead, in this patient features such as anterior open bite and decreased anterior tooth display, not reported in other cases, was evident. Key Words: Bone Diseases, Developmental; Craniofacial Abnormalities; Open Bite Journal of Dentistry, Tehran University of Medical Sciences, Tehran, Iran (2008; Vol: 5, No.2)
INTRODUCTION Pyknodysostosis, first described in 1962 by Maroteaux and Lamy [1], is a rare autosomalrecessive disorder of osteoclast dysfunction causing osteosclerosis. The name derives from the Greek "Pyknos" meaning "dens". The disease show equal sex distribution with high consanguinity among parents of the patient. Pyknodysostosis overlaps the more common osteopetrosis and cleidocranial dysostosis [2]. The syndrome was considered a type of osteopetrosis or cleidocranial dysostosis before 1962 [3]. General features include short stature (
